World first trial for kids with Duchenne muscular dystrophy

Exciting news today about the world-first delivery of a gene therapy at Westmead. Below article reposted from SCHN website here.

Three boys in NSW have become the youngest in the world to receive therapy for Duchenne muscular dystrophy as part of a world-first international clinical trial for children aged under four.

Lucas (3), Hunter, (4) and Ollie (3) were all diagnosed with Duchenne muscular dystrophy before their third birthdays. The rare and life-limiting genetic condition affects 1 in 5,000 boys and causes rapid muscle weakness, resulting in almost all children needing a wheelchair by 12 years of age.Current management involves high-dosed steroids, combined with physical therapy and allied health support, but there is no long-term effective treatment and no known cure.The new DMD clinical trial will use a novel viral vector-based gene replacement therapy, fordadistrogene movaparvovec, to target DMD at its root cause, replacing the faulty or mutated gene with a healthy, functioning version in a one-time, single dose infusion.The trial will recruit a total of 10 boys worldwide, with patients followed over a period of at least five years to measure the therapy’s effectiveness.Dr Michelle Lorentzos, Clinical Trials Medical Lead at The Children’s Hospital at Westmead (CHW), said the trial is hoped to show early intervention can change the clinical trajectory for boys with DMD.

“This is the only trial in the world treating boys under four years of age. We think by treating the boys earlier, we may be able to prevent much of the weakness and disability that has already occurred in older patients,” Dr Lorentzos said.

“If successful, this treatment could change the landscape of treatment for boys with DMD by offering a transformative intervention that may enable the boys to continue walking into adulthood and also improve their life expectancy.”

Three-year-old Lucas was the first patient in the world to be dosed in the clinical trial. His mum, Sam, said it was a big decision but they are grateful to have the option of a potential treatment for their son.“When we found out Lucas was the first, we were nervous but we are so proud of him. We are taking each day as it comes but hope this is an opportunity for a better life for Lucas and one day, leads to a cure for this condition,” Sam said.Clinical Associate Professor Kristi Jones, Principal Investigator on the trial and Staff Specialist in Clinical Genetics at CHW, said the trial is an incredible achievement for the team.“The fact we have been able to run this trial, and are the first site in the world to do so, is a remarkable achievement and the result of many years of hard work,” A/Prof Jones said.

“This wasn’t something we would have been able to achieve on our own and we give our sincere thanks to our supporters, like Save Our Son Duchenne Foundation, who have supported our teams and helped fund our research from the beginning. Their advocacy has been instrumental in making this trial possible.”Maddison’s son, Hunter, who was second to be enrolled in the trial, says she has seen firsthand the difference clinical trials like this can make.“These trials are so important because it can change lives – I know it has changed mine,” Maddison said.

“When Hunter was diagnosed, I wanted to give him every opportunity to be able to live a life as long as possible, without devices to help him and to run around and do everything a child should be able to do. This trial is helping him to do that.”

The trial is not only set to help children with DMD, but also open up the possibilities for other genetic diseases.“The impact of this achievement is beyond potential benefits for Duchenne muscular dystrophy. Many of the capabilities utilised in this trial can be directly translated into treatments for these other diseases,” Dr Lorentzos said.

“This means NSW is positioned to be first in line for other clinical trials and gene replacement therapies that stand to help other Australian children living with rare diseases.”For families like Ollie’s, who was the third dosed, the trial provides a great deal of hope.“We are excited to be part of this trial and are hopeful for the best outcomes for Ollie but we are also hopeful for all the other families like ours,” Michael, Ollie’s dad, said.

“No child should ever have to suffer the consequences of a disease like DMD so we just hope that science continues moving forward and these incredible teams can continue finding new ways to help all families going through this.”

The DMD clinical trial was enabled by the Kids Advanced Therapeutics Program at SCHN, a program kindly supported by Luminesce Alliance and Sydney Children’s Hospitals Foundation which aims to deliver clinical trials of advanced therapeutics and to speed up translation into clinical care.  

Cost of going blind calculated for first time as $5.2m

Researchers have for the first time calculated the lifetime cost of living with an inherited eye disease in Australia as $5.2 million per person. Distressingly, a significant portion of the cost associated with the progressive loss of vision is absorbed by the individuals affected and their families, with over one-third of these costs being due to loss of individual and family income over their lifetime.

The findings have been published in The Medical Journal of Australia, thanks to the work of teams from Macquarie University’s Centre for Economic Impacts of Genomic Medicine, Sydney Children’s Hospitals Network (SCHN), Children’s Medical Research Institute (CMRI), Save Sight Institute (SSI), and the University of Sydney.

Inherited diseases of the retina (the light-sensitive cells at the back of the eye) include blinding eye conditions such as Stargardt disease, retinitis pigmentosa, Leber congenital amaurosis and many more. Some appear in childhood, and some in adults who all suffer from progressive deterioration of eyesight, typically leading to blindness.

While health care and societal costs are routinely modelled for most diseases, comprehensive Australian data for inherited retinal diseases have not been available until now.

Professor Robyn Jamieson is Head of the Eye Genetics Research Unit at CMRI and SSI and is a Professor of Genomic Medicine at the University of Sydney. Her team has collaborated with Professor Deborah Schofield, Director, Macquarie University’s Centre for Economic Impacts of Genomic Medicine and her group, to address the lack of information about lifetime costs of inherited retinal diseases.

Professor Jamieson also led the team that delivered the first successful gene therapy for a genetic eye disease in Australia in 2020. She says progress is being slowed by the need for more investment in research.

“In 20 years, I have seen such incredible progress. Research in the field of genetic eye diseases offers immense possibilities – to maximise the ability to deliver definitive genetic diagnoses and develop many kinds of cutting-edge therapies to stop, and even reverse, vision loss and restore sight. However, lack of research funding has been a major challenge”, Professor Jamieson said. “This study shows the enormous societal cost to Australia from inherited retinal diseases and the critical need for research investment to tackle these debilitating conditions”.

Professor Schofield said this study was long overdue.

“Some diseases are highly visible such as those with large hospital costs for example, but patients with a form of genetic eye disease experience very substantial costs borne by patients and their families as well as large costs outside the health system which often go unnoticed’’ Professor Schofield said.

“This is why the microsimulation model deployed in this study is so useful for gathering often-hidden individual and societal costs.’’

Professor John Grigg, Professor of Ophthalmology, SSI, University of Sydney, a clinician with specialist expertise in inherited retinal diseases who was involved in the study, said these diseases can have devastating impact.

“We aren’t just talking about children who are born with a genetic eye disease, sometimes these diseases occur in adults who then are unable to continue their successful careers,’’ Professor Grigg said. “I know health care workers and other professionals, who are doing extraordinary work – and suddenly they are affected by one of these diseases and cannot continue in their jobs. They can feel as though their contribution to society has been lost.”

Professor Jamieson said: “People with inherited eye diseases who are losing their vision often take it as their own personal responsibility, trying to build a resilient mindset, feeling they really don’t want to rock the boat. There are many patients and families without a genetic diagnosis and most without a therapy. We really need the research funding to work on diagnoses and novel therapies.’’

Junko Katsuda has watched her 11-year-old son lose his vision due to Stargardt disease and said his condition should be treated with the same urgency as other genetic conditions.

“While they may not be immediately life-threatening, the impact on an individual’s quality of life, independence, and future opportunities is immense. It is crucial that these conditions receive equitable support, research funding, and access to innovative therapies,’’ Ms Katsuda said.

“The investments made today will not only alleviate the financial strain on families and the healthcare system but also empower individuals with genetic eye diseases to lead fulfilling lives, contribute back to society, and reduce their dependence on social support systems.’’

The authors reported a lifetime cost of $5.2m per patient, of which 87% was attributable to societal costs and 13% to healthcare costs. In the adult cohort, only 62% were working. Notably, only 41% had National Disability Insurance Scheme support.

Full publication:

Prestigious national award for Professor Ian Alexander

A pioneer of the Australian gene therapy field, Professor Ian Alexander, has been awarded the prestigious Peter Wills Medal as part of the Research Australia Health and Medical Research Awards.

Professor Alexander is head of Children’s Medical Research Institute’s Gene Therapy Research Unit, which he founded over 25 years ago, as a joint initiative with Sydney Children’s Hospitals Network where he still works as a paediatrician in advanced therapeutics.

The clinician-scientist was awarded the Peter Wills Medal which recognises someone who has made an outstanding contribution to building Australia’s international reputation in health and medical research and fostering collaboration for better health.

“I am deeply humbled and honoured to receive this award from Research Australia”

“It is gratifying recognition of the entire gene therapy field and all the people who have travelled the road with me over the last 30 years. We were called dreamers, and I probably am a dreamer, but I think you need to be.”

Gene therapy involves using genes to treat or cure disease. In the context of genetic disease it may be used to either repair or replace a faulty gene, but its immense potential to improve human health also extends to cancer, other complex disorders and infectious disease. .

When Professor Alexander established the Gene Therapy Research Unit at CMRI it was still considered to be “science fiction’’. His team became the first in Australia to treat a genetic disease by gene therapy and are now recognised as leaders in their field.

Professor Alexander said he’s never been more excited about the field as he is now.

“And of course, I’m particularly excited about the prospects for infants, children and their families dealing with devastating and currently untreatable genetic diseases. In fact, I have never been more excited in my entire medical and research career.”

“As a clinician-scientist I feel deeply about the importance of biomedical research. It is the bedrock of good clinical medicine and I’d like to see an increasingly strong research culture evolve in our already world class health system”.

Professor Alexander thanked CMRI’s Director Professor Roger Reddel for his continued support of his research and for nominating him for the award. He also acknowledged the NSW Ministry of Health for their proactive support of gene therapy, making the first treatments possible, piloting the first DNA-based newborn screening program in the country, and preparing the health system for these therapies.

The Peter Wills Medal was created in honour of Peter Wills AC whose work promoting the importance of health and medical research led to the inception of Research Australia.

New funding puts Viral Vector Manufacturing Facility in winning position

Children’s Medical Research Institute warmly welcomes the NSW Government’s announcement of its allocation in the 2022/23 Budget of $101.4m toward a commercial-scale Viral Vector Manufacturing Facility. This significant investment will greatly advance the ability to treat children with serious genetic diseases.

In addition to funds to build the manufacturing facility, the $101.4 million commitment includes operational funding to accelerate NSW’s commercial-scale viral vector production.

NSW Premier, The Hon Dominic Perrottet announced the Viral Vector Manufacturing Facility funding as part of a total $270m investment toward boosting biomedical research and Med Tech innovation.

CMRI’s Head of Gene Therapy, Professor Ian Alexander, who is involved in the Viral Vector program, said, “This funding is very timely given the explosion of therapeutic possibilities emerging from the gene therapy field. Close to 90% of these therapies require viral vector manufacture to reach human clinical trials and beyond.”

Head of CMRI’s Translational Vectorology Unit, Associate Professor Leszek Lisowski, said, “The real work starts now, and this funding from the NSW Government puts us in a winning position.’’

A vector is a microscopic tool used to deliver healthy copies of genes to patients’ tissues and organs, or to deliver the ability to correct the genetic error at its source. While the technology is developing rapidly, the ability to produce high-quality (clinical grade) vectors has been a roadblock until now.

NSW is at the forefront of international gene therapy research through the pioneering work of researchers at CMRI and their colleagues in the Luminesce Alliance of paediatric research organisations. The availability of clinical-grade viral vector production capability in Australia, located next door to CMRI, will accelerate the ability to translate CMRI’s research into the clinic – as potential cures for serious genetic diseases affecting children.

This Viral Vector Manufacturing Facility located in the Westmead Health and Innovation Precinct is a collaboration between NSW Treasury, Investment NSW, and various NSW Health entities, including Health Infrastructure, Office of Health and Medical Research, Sydney Children’s Hospitals Network and with support from Children’s Medical Research Institute and Western Sydney Local Health District.

The NSW Government’s $270m funding package also includes $143.3 m for the Sydney Biomedical Accelerator at Camperdown and $25.6 m for advanced therapies such as CAR T-cell therapies for cancer.

CMRI’s Director, Professor Roger Reddel, welcomed all of this news and thanked the NSW Government and the Ministry of Health for its commitment to making lifesaving treatments available to the people of this State as early as possible.

“We are in the early phases of a revolution in medical technology that will make it possible to treat and even cure serious diseases, especially of children, that currently have no or very limited treatment options. This is already happening for a small number of inherited diseases, and there is enormous potential to extend this technology further to benefit children and adults with many more inherited diseases and other diseases such as cancer. The major investment announced by the NSW Government is a critically important step towards making this a reality,” Prof Reddel said.

Gene Therapy Improvement Has Massive Potential

A team of scientists from Children’s Medical Research Institute (CMRI) in Sydney have developed a new way to improve targeting of specific organs and tissue types in gene therapy – making this innovative gene delivery technology more efficient and described as having “massive potential’’ for the field.

The work is featured as the cover story in the scientific journal, Human Gene Therapy published this week.

Tools based on adeno-associated virus (AAV), a non-pathogenic virus, are used as a delivery system for gene therapeutics. To convert the virus into a delivery tool, the researchers have removed all viral genes, which turns the virus into a very efficient gene delivery vehicle, called a vector. The vector can then be used to deliver a working copy of a gene to specific cells in the patient to correct a disease caused by a faulty gene. With one injection, patients could potentially be cured of their disease.

However, this system is still in the early stages of development for many conditions. One of the major limitations is the ability to safely and effectively deliver the therapeutic gene to the specific (diseased) cells inside the patient’s body; something the current generation of viral vectors are not able to achieve. Novel bioengineered AAV vectors developed with the clinical application in mind, offer a promising alternative. The CMRI team specialises in the development of novel AAV vectors. The first bioengineered AAV vector to enter clinical development (currently in number of a commercial and academic trials, including Phase III for a genetic liver condition) was developed by the CMRI team in collaboration with Stanford University.

In this publication, the CMRI team reports a new method that enables the development of more functional and improved AAV vectors. In contrast to other commonly used vector bioengineering methods, the technology developed by the CMRI team allows the researchers to select the best novel vector, based on how well it is likely to restore gene function in a therapeutic application.

“We successfully optimised an existing technology to generate new AAV capsids to be able to target new organs, or target organs that are already accessible to gene therapy, more efficiently,’’ says the lead author Adrian Westhaus who is part of CMRI’s Translational Vectorology Research Unit.

“The optimisation was achieved by understanding an existing promoter element in the AAV genome and repurposing it for viral capsid engineering.’’ A promoter is “an engine” that drives expression of genes.

Head of the Translational Vectorology Research Unit, Associate Professor Leszek Lisowski, said it was an exciting new platform technology.

“This will allow us to develop, right here in Australia, even better novel AAVs that will enter translational development pathways, with the promise of being better carriers of gene therapeutics.”

“It will bring hope of effective treatment to millions of kids affected by genetic disorders. The technology has enormous potential, and while its full impact is difficult to predict, it could form the foundation of a revolution in biomedical and translational research.”

“This innovative approach, referred to as the functional transduction (FT)-based method for rapid identification of novel AAV variants, has the potential to improve the development of treatments for all conditions that could benefit from AAV-mediated gene therapy.” Says Dr Marti Cabanes-Creus, the inventor of the technology.

The teams involved were CMRI’s Translational Vectorology Unit, the Gene Therapy Research Unit, along with the Stem Cell Medicine Group which produced an image selected for the cover of Human Gene Therapy. Authors were Adrian Westhaus, Dr Marti Cabanes-Creus, Timo Jonker, Erwan Sallard, Renina Gale Navarro, Erhua Zhu, Grober Baltazar Torres, Scott Lee, Patrick Wilmott, Dr Anai Gonzalez-Cordero, Professor Ian Alexander, and Associate Professor Leszek Lisowski.

The work was funded by Australian National Health and Medical Research Council, the Paediatric Precision Medicine Program, Luminesce Alliance and LogicBio Therapeutics.

The publication is available online here:

Partnership for RNA Project

Scientists from Children’s Medical Research Institute (CMRI) have partnered with RNA researchers from the Monash Institute of Pharmaceutical Sciences (MIPS) to combine mRNA delivery with viral gene delivery to treat metabolic liver disease in infants and children.

The partnership will be funded by a $99k grant from the mRNA Victoria Research Acceleration Fund along with grants from Monash University and CMRI, and will be led by Professor Colin Pouton from MIPS alongside Dr Samantha Ginn and Professor Ian Alexander from CMRI’s Gene Therapy Research Unit.

The MIPS team is also made up of mRNA researchers, Dr Harry Al-Wassiti, Dr Joan Ho and Dr Stewart Fabb.

For several years, CMRI’s Dr Ginn and Professor Alexander (also of Sydney Children’s Hospital Network) have been working on gene editing using CRISPR-Cas9 (a family of DNA sequences) with the aim to directly repair defective genes in infants and children with ornithine transcarbamylase (OTC) deficiency, a genetic disorder that can lead to progressive liver damage.

“We are thrilled to be working with Professor Colin Pouton, Dr Harry Al-Wassiti and the team from Monash to develop gene therapy treatments for children with genetic liver disease,’’ Dr Ginn said. This is made possible by our combined expertise in gene delivery and genome editing technology and this grant will enable us to continue our efforts in this space.”

Professor Pouton’s team at MIPS has partnered with the CMRI team to make CRISPR-Cas9 gene correction safer by using mRNA technology, with preliminary experiments producing some very exciting data.

Professor Pouton, who is also leading the development of Australia’s first mRNA COVID-19 vaccine, said it’s an exciting time for mRNA technology and its potential to transcend a broad range of medical applications.

“It’s very encouraging to see Australia continue to build its capabilities in mRNA research, development and manufacturing, which all contribute towards building a sustainable end-to-end ecosystem for producing world-leading RNA-based medical products,” Professor Pouton said.

“This grant will enable the two groups to combine expertise in mRNA and gene editing to develop a technological platform for gene correction with broad therapeutic applicability and a universal therapeutic approach to the treatment of infants and children with OTC deficiency.”

New research facility to deliver life-saving medical technology in Western Sydney

CMRI is delighted by the NSW Government’s announcement about the establishment of Australia’s ​first commercial-scale viral vector manufacturing facility in the Westmead Health and Innovation District.

The ability to manufacture high-quality (clinical grade) viral vectors in Australia is critically important for our gene therapy programs. It will accelerate the delivery of, and access to, life-saving new gene therapies developed in the CMRI labs led by Professor Ian Alexander, Associate Professor Leszek Lisowski, Dr Anai Gonzalez-Cordero and Professor Robyn Jamieson, with our partner organisation, SCHN, to Australian patients, and transform the lives of many Australian families.  

Research Collaboration Announced Between CMRI and DiNAQOR to Develop Novel, Cardiac Specific Capsids

ZURICH-SCHLIEREN, Switzerland and WESTMEAD, NSW, Australia, Jan. 10, 2022 /PRNewswire/ — DiNAQOR, a genetic medicine platform company focused on addressing severe inherited cardiac diseases, today announced it has entered into a research collaboration with Children’s Medical Research Institute (CMRI) in Australia to develop novel bioengineered adeno-associated virus (AAV) capsids to route gene therapy directly to human cardiac muscle.

Under the terms of the agreement, DiNAQOR has the option to obtain an exclusive license for capsids co-developed with CMRI for both cardiovascular and kidney diseases. As part of the collaboration, CMRI will make available its extensive library of AAV capsids, which are the protein shells surrounding viruses that act as a delivery mechanism for gene therapies. DiNAQOR will provide access to its proprietary engineered heart tissue (EHT) technology and animal tissue to enable the most effective and clinically-impactful screen of the CMRI capsids to identify novel cardiac-specific capsid variants.

“We are honored to be working closely with CMRI, a pioneer in the field of gene therapy and a world leader in the design of capsids to deliver these medicines,” said Eduard Ayuso, D.V.M., Ph.D., Chief Technology Officer at DiNAQOR. “Our aim is to develop new capsids that can target the heart more efficiently at lower doses.”

DiNAQOR will screen capsids for transduction systemically and tailor AAV capsids for loco-regional perfusion (LRP) administration. DiNAQOR’s LRP system enables gene therapies to be routed directly to the cardiac muscle, maximizing biodistribution and transduction of the cardiac cells. This new approach, which is actively being used in several pre-clinical studies, may minimize potential adverse effects of systemic gene therapy delivery while lowering the cost.

“This will be an exciting collaboration, and it is consistent with our strategy to align with world leading academic institutions to expand our R&D efforts, platform capabilities and our pipeline,” said Johannes Holzmeister, M.D., Chairman and CEO of DiNAQOR. “CMRI has a stellar team, and we look forward to working closely with them to make a real difference in the lives of patients.”

The CMRI team is led by Associate Professor Leszek Lisowski, Ph.D., MBA, an expert in viral vector-based gene therapies, vectorology and genotoxicity.

“We look forward to working with the team at DiNAQOR to identify novel capsids that may improve the standard of care for patients with heart disease,” commented Associate Professor Lisowski. “We are optimistic that novel capsids, administered with DiNAQOR’s LRP system, will form a foundation of novel advanced therapies to benefit millions of affected patients world-wide.”

About Children’s Medical Research Institute
Children’s Medical Research Institute (CMRI) is an award-winning state-of-the-art medical research facility, dedicated to researching the genes and proteins important for health and human development. CMRI is supported in part by its key fundraiser Jeans for Genes®. CMRI is located at Westmead, the largest health and medical research precinct in NSW, Australia, and is affiliated with the University of Sydney.

DiNAQOR is a genetic medicine platform company focused on advancing novel solutions for patients suffering from severe, inherited forms of heart disease. The company is headquartered in Zurich-Schlieren, Switzerland, with additional presence in London, England; Hamburg, Germany; and Laguna Hills, California. For more information visit

Australian first gene therapy for childhood blindness

Two Sydney siblings have become the first patients in the country to receive a novel gene therapy that has rescued their vision and holds hope for preventing them from going blind.

The ocular gene therapy, LUXTURNA, is the world’s first approved gene replacement therapy for an inherited blinding eye condition and one of the first gene replacements for any human disease. Approved by the Therapeutic Goods Administration, LUXTURNA is used to treat children and adults with biallelic pathological mutations in RPE65, a rare mutation that leads to vision loss and blindness. It is being distributed in Australia by Novartis.

Seventeen-year-old Rylee and 15-year-old Saman were both diagnosed with Leber congenital amaurosis, a severe form of retinal dystrophy, in their first year of life. They received the life-changing therapy at The Children’s Hospital at Westmead in late 2020 and early 2021. The therapy has stopped their progressive vision loss and led to some improvements in their vision.

The therapy was delivered as part of Ocular Gene and Cell Therapies Australia (OGCTA), a new collaboration involving the Genetic Eye Clinic at Sydney Children’s Hospitals Network (SCHN), the Eye Genetics Research Unit and Stem Cell Medicine Group at the Children’s Medical Research Institute (CMRI), and the Save Sight Institute at Sydney Eye Hospital and University of Sydney.

CMRI was represented on this project by Professor Frank Martin who is CMRI’s Board President, Professor Robyn Jamieson who is Head of the Eye Genetics Research Unit at CMRI and SCHN and Dr Anai Gonzalez Cordero who is Head of the Stem Cell Medicine Group.

Prof Robyn Jamieson and Dr Anai Gonzalez Cordero

Professor Jamieson is also lead of OGCTA and Head, Specialty of Genomic Medicine, University of Sydney. She said the therapy was revolutionary and would lead to transformation of care for patients with blinding eye diseases.

“Inherited retinal disease is a devastating diagnosis. Up until now, these patients suffered progressive vision loss that led to blindness and there was no therapy for them at all,” Professor Jamieson said.

“But through new genomic diagnostics and the use of ocular gene therapy, we are finding that we have the ability to not only stop this ongoing progression but also help to improve vision for people who have RPE65-related retinal vision loss.”

Children and adults born with a mutation in both copies of the RPE65 gene can suffer from a range of symptoms, including night blindness (nyctalopia), loss of light sensitivity, loss of peripheral vision, loss of sharpness or clarity of vision and potentially total blindness.

Ocular gene therapy works by injecting LUXTURNA under the retina and carrying a functioning RPE65 gene to replace the faulty one, thereby preventing some of these devastating symptoms.

“The real-world improvements in visual function has been quite remarkable bringing to life the rather dry clinical trials outcome measures. It is tremendously heartening to see the changes in vision capabilities for these first patients treated with LUXTURNA, Professor John Grigg, Head of Specialty of Ophthalmology, Save Sight Institute, University of Sydney and lead inherited retinal disease specialist in OGTCA said.

“As an ophthalmologist who has been caring for patients with Leber’s amaurosis for many years and unable to offer any treatment, it is incredibly rewarding to now have the opportunity to not only give families hope but also be involved in improving their child’s vision,” Frank Martin, Clinical Professor in the Specialties of Paediatrics and Child Health and Ophthalmology at the University of Sydney said. 

Frank Martin
Prof Frank Martin

Associate Professor Matthew Simunovic, Vitreoretinal Surgeon, Sydney Eye Hospital and SCHN and Associate Professor at the Save Sight Institute, University of Sydney performed the first surgery and said the benefits of treatment should extend well into the future:

“This is incredibly delicate surgery in which LUXTURNA is injected under the retina, which in some patients can be as thin as a sheet of copy paper. Riley and Saman have had profound improvements in their vision, which mirror the results seen in the pivotal clinical trials. Importantly, such benefits appear to be sustained for many years – in fact, for as long as patients have been followed up. Successfully delivering the first approved gene therapy has been a fantastic team effort, and it underscores Australia’s capability in this field” A/Prof. Simunovic said.

To date, this treatment has been used to treat four patients and while it can only be used to treat this specific form of retinal disease, it does provide significant hope that similar treatments will be able to be applied to other retinal disease genes in the future.

“This heralds a new era in transforming the lives of these people who otherwise have a life of blindness ahead of them and provides hope for more than 15,000 other affected Australians who live with some form of inherited retinal disease,” Professor Grigg said.


CMRI Awarded Multiple Medical Research Future Fund Grants

Children’s Medical Research Institute (CMRI) was awarded multiple Medical Research Future Fund (MRFF) grants to help improve the lives of children living with genetic diseases. The MRFF, which is an initiative of the Australian Government, has funded research projects in cancer, gene therapy, and stem cell medicine at CMRI.

Dr Anai Gonzalez-Cordero, head of the Stem Cell and Organoid Facility and Stem Cell Medicine Group at CMRI, has been awarded the MRFF Stem Cell Therapies Grant to investigate new gene therapies for inherited eye disease.

Dr Gonzalez-Cordero and her team, in collaboration with A/Prof Leszek Lisowski and Prof Robyn Jamieson, Prof Ian Alexander, and Prof John Grigg (of SCHN and CMRI), as well as Dr Carvalho at the Lei Institute in WA, will collect induced pluripotent stem cells (iPSC) from patients’ own cells to generate mini-organs (3-dimensional organoids), specifically of the retina. Thanks to the $498,000 award from the MRFF, Dr Gonzalez-Cordero will be able to test new gene therapies on these retinal organoids and try to reverse the blinding effects of inherited eye disease.

A key tool in gene therapies is the use of adeno-associated virus (AAV) vectors. Where Dr Gonzalez-Cordero will use an AAV vector to treat blindness, Associate Professor Leszek Lisowski, head of the Vector and Genome Engineering Facility and Translational Vectorology Unit at CMRI, will attempt to treat Friedreich’s Ataxia, a genetic disease that causes progressive nervous system damage and movement problems.

A problem with the AAV vector is its difficulty in targeting neuronal and cardiac cells, making them ineffective in the treatment of neurological diseases like Friedreich’s Ataxia. A/Prof Lisowski, in collaboration with Associate Professor Mirella Dottori from the University of Wollongong, was awarded $983,000 to address this major roadblock and develop superior AAV vectors (called ‘SMART AAVs’) that specifically target human cardiac cells, sensory neurons and cerebellar neurons.

Professor Hilda Pickett and her team have long investigated telomeres, the short DNA stretches located at the ends of chromosomes that are important to cancer and aging. Unlike normal cells, where telomeres shorten every time a cell divides, the telomeres in cancer cells maintain their lengths, enabling them to keep growing. There are two methods cancer cells use to achieve this: telomerase and the Alternative Lengthening of Telomeres (ALT) mechanism.

Osteosarcoma is the most common type of primary bone malignancy, with the highest incidence in adolescence. The ALT mechanism is used by nearly 60% of osteosarcomas, yet no ALT-specific treatment strategies currently exist. Courtesy of a $1.48 million grant, Prof Pickett and her collaborators on this project (Prof Roger Reddel and A/Prof Tony Cesare of CMRI) can exploit a newly found Achilles’ heel of ALT cells to create chemical inhibitors toxic to ALT cells, improving treatments for adolescent osteosarcomas.

The Australian Government has contributed $2,961,000 in total to research at CMRI through these MRFF grants, and their support is a huge step towards beating children’s genetic diseases.

Learn more about the MRFF at

Dr Anai Gonzalez-Cordero, A/Prof Leszek Lisowski, Prof Hilda Pickett, Prof Robyn Jamieson, Prof Ian Alexander, Prof Roger Reddel, A/Prof Tony Cesare

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